E47K (p.Glu47Lys) variant of SIX1 (Homeobox protein SIX1)
E47K (p.Glu47Lys) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- TOPMed rs1223102250
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.458